What you'll get

What you'll get

Gain deeper insightLearn more about your results by exploring your full clinical report or speaking with a genetic counselor.

Understand how your carrier status may affect your future

We all carry variants (or changes) in our DNA, but some variants can impact the health of children who inherit them.

Carriers are usually healthy, but they can pass down the condition-causing gene variant to their children. If both you and your reproductive partner are carriers of the same condition, your children could be affected by that condition.

CarrierCheck analyzes your DNA to see if you are a carrier of gene variants associated with conditions such as cystic fibrosis, beta thalassemia, Tay-Sachs disease, and 64 more genetic conditions.

Get easy-to-understand results

A genetic counseling session and customized test report are included with every order to help you understand your results. In some cases, a genetic counselor will reach out to you to discuss what your report means for you and your future children.

Through your Sema4 account, you can also access educational materials to help you learn more about the conditions that CarrierCheck screens for, how to read your report, and more.

What will my results tell me?

Negative: If you are negative for a condition, it means that you have a significantly reduced risk of being a carrier of that disease.

Positive: If you are positive for a condition, it means that you tested positive as a carrier of a genetic disease. This does not guarantee that your children will or will not inherit that condition.

WHAT MAKES SEMA4 DIFFERENT

Carrier screening to help you prepare

Sema4 is revolutionizing how we think about gathering and using health data by offering cutting edge clinical tests that help you explore your genome. Beyond simply providing you with genetic test results, Sema4 also includes a suite of informational resources and personalized guidance to help you understand and use your genetic insights.

The science

A variant (or change) in a gene can sometimes cause that particular gene to not do its job as it otherwise would. Since we all have two copies of almost every gene, there’s usually still a working copy of the gene that allows our bodies to function normally. For you to develop an autosomal recessive disorder, you must have two non-working copies of the same gene.

Carrier screening allows you to check if you are carrying a variant that leads to a non-working copy of a gene. If two people carry a non-working copy of the same gene, their children may inherit a resulting autosomal recessive disorder. CarrierCheck screens for a specific number of gene variants that researchers have identified in relation to certain genetic diseases.

Impact

Behavior and environment have no influence on whether you’re a carrier of an autosomal recessive disorder.

Limitations

This product is not intended for those who are currently pregnant or are actively trying to get pregnant.

This product does not check for variants in genes involved in all known autosomal recessive disorders. For example, this product does not check for variants linked to spinal muscular atrophy.

This product does not look at conditions that are inherited in ways other than autosomal recessive. For example, this product doesn’t check genes on chromosome X.

This product does not check for all possible variants of the 65 tested genes.

If you are a carrier of two gene variants in the same gene, this product will not identify if you inherited both variants from one parent or a variant from each parent. This could affect how likely you are to pass the variants to your children.

How it works

Because this test screens for conditions that might have serious medical implications, Sema4 provides a physician to review your order and health history to ensure it’s right for you before testing.

No paperwork

Answer a few questions about your health history during product registration. It takes just a few minutes.

No additional cost

The physician review of your order is included in the cost of the test, and insurance isn’t required.

Order your product

Helix sends a DNA kit to your home

Register your product and provide your health history

Provide a saliva sample and a physician will review your information

Get an email when your results are ready

The Helix DNA kit

To capture the information stored in your DNA so it can be used for this product, we need to collect a small, one-time saliva sample from you. This kit has everything you need to provide that sample from the comfort of your own home, and you’ll never have to provide another.

A unique Kit ID you’ll use to register your kit

Saliva collection tube, cap, and printed instructions

A small bag and prepaid box to send your saliva sample to our lab

About Sema4

Sema4, a Mount Sinai venture, is an innovative health information company dedicated to empowering better diagnosis, treatment, and prevention of disease through data. Led by experts in genetics, design, data science, and technology, Sema4 is developing cutting-edge clinical tests and practical digital tools to revolutionize how health data is used to improve well-being for all.

About Helix

Helix empowers everyone to explore what makes them unique—their DNA.

From health and wellness insights to family planning and ancestry information, Helix’s growing list of partners can tap into your genetic profile to provide relevant insights for today, tomorrow and years to come.

Why do I need the Helix DNA kit?

Products on Helix use the DNA information found in your saliva to give you insights into what makes you, you. The Helix DNA kit has everything you need to provide a saliva sample and send it to our lab to we can sequence your DNA.

Once you are sequenced, you can gain insights from any from any product on Helix for years to com – all without having to provide another saliva sample ever again.

Questions

What genes does this product check?

CarrierCheck looks at a total of 65 genes that are linked to 67 genetic conditions. However, it does not check all possible positions in these genes. It only checks the positions of certain known variants with an established link to the 67 genetic conditions that CarrierCheck screens for.

If I carry a genetic condition, will my children also carry that genetic condition?

CarrierCheck screens for recessive genetic conditions. This means that, if you’re a carrier of one of these conditions, your children have a 50% (1 in 2) chance of being a carrier of that genetic condition, and a 50% chance of not being a carrier. If you are a carrier of a recessive genetic condition, it’s very likely you do not have the condition.

Can women who are pregnant or trying to get pregnant order CarrierCheck?

If you are pregnant, this test isn’t right for you. Medical experts recommend that pregnant women receive a more comprehensive carrier screen, which includes additional conditions such as spinal muscular atrophy. If you are actively trying to get pregnant, more comprehensive carrier screening is also recommended.

Is this product limited to people of specific ethnicities?

CarrierCheck is intended for people of all ethnicities.

Can I choose my own physician to approve testing?

No. When you order CarrierCheck, you answer relevant health history questions. Helix will share your contact information and health history with Sema4 so a physician they designate can review and make sure this product is right for you. This process helps make sure you get access to these insights quickly and efficiently through a provider that is familiar with this type of testing. You can always share your results with your healthcare providers.

Do I need access to my medical records to answer the health history questions?

While it might help to have your records handy, it’s definitely not required. It’s okay to answer the health history questions from memory to the best of your ability.

Can I use my health insurance benefits to purchase this product?

Unfortunately, no. This is an at-home test that doesn’t require an office visit, and we cannot currently accept payment from insurance providers.

Will someone be available to help me understand my results?

While your results will be delivered to you in an easy-to-understand format, Sema4 knows that you may have questions. To help you understand what your results mean for you and your family, a session with a board-certified genetic counselor is included with your CarrierCheck purchase. We also encourage you to share your results with your physician if you have any specific questions or concerns.

Do I have to get sequenced to use this product?

Yes. In order to use CarrierCheck, you need to be sequenced by Helix. To ensure the quality and accuracy of the genetic information used for this service, products in the Helix marketplace do not accept genetic data from outside sources.

How does Helix provide my DNA information to Sema4? Is it shared with anyone else?

Your DNA information is stored securely by Helix. When sequencing is complete, Helix only sends the relevant DNA information needed by Sema4 to generate your results. We do not share your DNA information with anyone without your permission. We always maintain the highest standards when it comes to the security and privacy of your DNA information.

How do I learn more about how Sema4 uses my information?

Sema4 is committed to protecting your privacy. To keep your information secure, they use a number of physical, technical, and administrative safeguards. To learn more, please read Sema4’s full Privacy Policy, Informed Consent, and Terms of Use.

How do I view my results?

Sema4 will send you an email when your results are ready to be viewed online. A session with a board-certified genetic counselor is included with your CarrierCheck purchase to help you understand what your results mean.